Diana L. Mandelker

The paper develops and validates a clinicogenomic risk model to predict second primary cancers in cancer survivors using genetic, clinical, and lifestyle factors.

The paper identifies how germline and somatic mutations interact to cause resistance to CDK4/6 inhibitors in breast cancer and proposes a sequential treatment strategy using PARP inhibitors.

The paper functionally characterizes BRCA2 variants using saturation genome editing and classifies them clinically, finding functionally abnormal variants are associated with increased cancer risk.

The paper shows oncologic therapy increases clonal hematopoiesis with DDR mutations, which predicts risk of therapy-related myeloid neoplasms.

PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.